AutismKB 2.0

Annotation Detail for TWIST1


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Basic Information Top
Gene Symbol:TWIST1 ( ACS3,BPES2,BPES3,CRS1,SCS,TWIST,bHLHa38 )
Gene Full Name: twist homolog 1 (Drosophila)
Band: 7p21.1
Quick LinksEntrez ID:7291; OMIM: 601622; Uniprot ID:TWST1_HUMAN; ENSEMBL ID: ENSG00000122691; HGNC ID: 12428
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200030HIF-2-alpha transcription factor network
200196Notch-mediated HES/HEY network
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1865Hyperopia
1891Ptosis
1934Cancer
1977Rheumatism
1998Enteritis
2094Ulcerative colitis
2249Craniosynostosis
Desease Name
CANCER
non-small cell lung carcinoma
craniosynostosis
No data
Desease Name
Craniosynostosis, type 1
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome with eyelid anomalies
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C055506 4-(diethylamino)benzaldehyde 4-(diethylamino)benzaldehyde results in decreased expression of TWIST1 proteindecreases expression 16316642
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of TWIST1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TWIST1 mRNAaffects expression 16483693
D001151 Arsenic TWIST1 protein results in decreased susceptibility to Arsenicdecreases response to substance 19806464
D004041 Dietary Fats Dietary Fats results in decreased expression of TWIST1 mRNAdecreases expression 18042831
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of TWIST1 mRNAaffects cotreatment|decreases expression 17404688
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of TWIST1 geneincreases mutagenesis 16724327
D005480 Flurbiprofen Flurbiprofen results in decreased expression of TWIST1 mRNAdecreases expression 16949054
C041786 palm oil palm oil results in decreased expression of TWIST1 mRNAdecreases expression 18042831
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of TWIST1 mRNAaffects cotreatment|decreases expression 17404688
D011374 Progesterone Progesterone results in decreased expression of TWIST1 mRNAdecreases expression 17404688
D013792 Thalidomide Thalidomide results in decreased expression of TWIST1 mRNAdecreases expression 12242718
14713331
D014212 Tretinoin Tretinoin results in increased expression of TWIST1 proteinincreases expression 16316642
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Thalidomide 4.718333272
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D000168 Acrocephalosyndactylia marker/mechanism 15923834
MESH:D000230 Adenocarcinoma Estradiol 2.1211473722
MESH:D000236 Adenoma Ethylnitrosourea 3.786695378
MESH:D011125 Adenomatous Polyposis Coli Flurbiprofen 5.1710680582
MESH:D018246 Adrenocortical Adenoma Arsenic 5.3917306315
MESH:D000505 Alopecia Tretinoin 3.7015955085
MESH:D000690 Amyotrophic Lateral Sclerosis Thalidomide 4.4216510725
MESH:D020261 Arsenic Poisoning Arsenic 2.8916835338 16251483 18414634 12569548
MESH:D001161 Arteriosclerosis Dietary Fats 4.0315238619
MESH:D001169 Arthritis, Experimental Thalidomide 8.009598899
MESH:D001169 Arthritis, Experimental Tretinoin 8.0016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3716456186
MESH:D050197 Atherosclerosis Arsenic 3.3112928151 19371607
MESH:D001471 Barrett Esophagus Tretinoin 4.5316935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.7216206674 16197459
MESH:D001927 Brain Diseases Ethylnitrosourea 4.9814991843
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5117868700
MESH:D001930 Brain Injuries Progesterone 4.4015665606 15380490 15845082
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.3918412241 16651633 16357521 16436596 15144691
MESH:D001943 Breast Neoplasms Dietary Fats 1.9820435547
MESH:D001943 Breast Neoplasms Estradiol 1.9816675129 12948864 17289903 18497071 17261762 17018787 19861407 14630087
MESH:D001943 Breast Neoplasms Progesterone 1.9816175315 17614352 15562024
MESH:D001943 Breast Neoplasms Tretinoin 1.9816873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7416813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6216111702
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6515504454 17687452
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3316168501
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 9.0821507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Arsenic 9.0817306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Estradiol 9.0816924424
MESH:D006528 Carcinoma, Hepatocellular Thalidomide 9.0816313753
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 9.081917145
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.9018922899 17687452 15504454
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9016096774 16051514
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1818640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.5219152805 17938729 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.4118022660 16973168
MESH:D002386 Cataract Tretinoin 3.1517460283
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.2618566989
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.2616003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.1617160924
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7416129372
MESH:D018281 Cholangiocarcinoma Thalidomide 4.9718291259
MESH:D002822 Choriocarcinoma Tretinoin 5.3316461808
MESH:D002972 Cleft Palate Tretinoin 2.719407595
MESH:D003092 Colitis Thalidomide 10.3616680017
MESH:D003092 Colitis Tretinoin 10.3617035595
MESH:D016510 Corneal Neovascularization Thalidomide 5.719301478
MESH:D003389 Cranial Nerve Diseases Thalidomide 6.489200351
MESH:D019465 Craniofacial Abnormalities Thalidomide 3.109200351
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.109211117 16925845 9142499 10589399 9224671 8800419 9664655 17551590 9125849 14991402
OMIM:123100 CRANIOSYNOSTOSIS, TYPE 1 marker/mechanism
MESH:D003424 Crohn Disease Thalidomide 4.2116078585
MESH:D003928 Diabetic Nephropathies Estradiol 3.5119279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.6317187935
MESH:D050171 Dyslipidemias Dietary Fats 3.5318367378
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.1618357618
MESH:D004489 Edema, Cardiac Tretinoin 4.6418230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.9117692515
MESH:D016889 Endometrial Neoplasms Estradiol 7.6511473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Tretinoin 7.6516569247
MESH:D004715 Endometriosis Progesterone 3.8716134523
MESH:D005124 Eye Abnormalities Tretinoin 3.6616938888 9664655
MESH:D005234 Fatty Liver Dietary Fats 3.3519004024 17967931 19551842 18296743
MESH:D005355 Fibrosis Dietary Fats 9.3018296743
MESH:D005355 Fibrosis Tretinoin 9.3017994277
MESH:D005534 Foot Diseases Arsenic 5.736392382
MESH:D005871 Giant Lymph Node Hyperplasia Thalidomide 6.4812701121
MESH:D005909 Glioblastoma Ethylnitrosourea 7.6516436596
MESH:D005909 Glioblastoma Tretinoin 7.6517312396
MESH:D005910 Glioma Ethylnitrosourea 6.8316357521 16651633 18412241
MESH:D005910 Glioma Thalidomide 6.8316327979
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3316084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.9514991402 9664655
MESH:D006558 Herpes Genitalis Estradiol 5.2115709030
MESH:D019584 Hot Flashes Estradiol 3.9317088409
MESH:D006930 Hyperalgesia Tretinoin 3.3016870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7021332399
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7116778211
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5617050553
MESH:D006949 Hyperlipidemias Dietary Fats 3.7321332399
MESH:D006973 Hypertension Arsenic 2.909931084 16076760 11953799
MESH:D006987 Hypesthesia Arsenic 5.7316093927
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5415869954
MESH:D007249 Inflammation Dietary Fats 12.5720412841
MESH:D007249 Inflammation Flurbiprofen 12.5711099482
MESH:D007249 Inflammation Progesterone 12.5715869954
MESH:D007249 Inflammation Thalidomide 12.5716134734
MESH:D007333 Insulin Resistance Dietary Fats 7.6018457598 11836018
MESH:D007333 Insulin Resistance Estradiol 7.6016627594 16393666
MESH:D007410 Intestinal Diseases Tretinoin 3.9017994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.0115992940 17551590
MESH:D007642 Keratosis Arsenic 5.1412749816 16930632
MESH:D007674 Kidney Diseases Estradiol 2.6415618244
MESH:D007680 Kidney Neoplasms Estradiol 8.0215610895
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.0217379185
MESH:D007898 Leishmaniasis, Visceral Thalidomide 4.4216514283
MESH:D007938 Leukemia Tretinoin 2.8217143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8116482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Thalidomide 4.3418720364
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.3419850784 17596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 7.9917339181
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 7.9919642359 16891316 9834237 19075265 19035177 17361223 17712046 16935935 17107899 16766008 17339181 19029980 17368321 17301526 17217047 16140955 16788101 17294898 19225113 17649720 12679006 17506722 16823087 15748426 16331271
MESH:D017880 Limb Deformities, Congenital Thalidomide 8.8110473037
MESH:D017880 Limb Deformities, Congenital Tretinoin 8.819224671
MESH:D008103 Liver Cirrhosis Dietary Fats 7.2618296743
MESH:D008103 Liver Cirrhosis Thalidomide 7.2617174718 16943688
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.7314659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Thalidomide 3.7315465738
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.7316248980 18397230
MESH:D008107 Liver Diseases Arsenic 2.5611134558
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.9218177683 2125692 9163691 15890375
MESH:D008113 Liver Neoplasms Arsenic 4.9216368122
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.808603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.7014755239
MESH:D008175 Lung Neoplasms Arsenic 3.7017976673 19168569 17306315
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.7016271038 16019985 17703301 6695378
MESH:D008223 Lymphoma Ethylnitrosourea 4.0215790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.1915375218
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.5017203775 16891317 11807958 11408345
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 10.5010838139 18041768 10767621
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.5017203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.6619453300
MESH:D008527 Medulloblastoma Tretinoin 2.8217453147
MESH:D008545 Melanoma Thalidomide 3.7816098027 12829675 17089043
MESH:D008545 Melanoma Tretinoin 3.7816752155
MESH:D008579 Meningioma Ethylnitrosourea 6.1617943659
MESH:D008591 Meningomyelocele Tretinoin 4.5616940565
MESH:D009101 Multiple Myeloma Thalidomide 4.2719112817 15920492 19112201 15867202 16445831 19372569 17168659 15744524 15939924 15741222
MESH:D009190 Myelodysplastic Syndromes Thalidomide 7.9918720364
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.9917596541
MESH:D017202 Myocardial Ischemia Arsenic 4.0715371236
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3616810080
MESH:D009362 Neoplasm Metastasis marker/mechanism 19806464
MESH:D009369 Neoplasms Tretinoin 2.4616946489 16594593
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.5416707424
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8917289903
MESH:D009421 Nervous System Malformations Estradiol 17.3311399458 16427766
MESH:D009421 Nervous System Malformations Thalidomide 17.3316859833
MESH:D009421 Nervous System Malformations Tretinoin 17.339125849
MESH:D009436 Neural Tube Defects Arsenic 7.6616620997
MESH:D009436 Neural Tube Defects Tretinoin 7.669142499
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.5716003739 17160924 16651423
MESH:D020078 Neurogenic Inflammation Arsenic 4.4917056641
MESH:D009765 Obesity Dietary Fats 2.3118674790 20518802 19632207 20132043 11836018 17217161 21332399 16723640 18457598
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.1617160924
MESH:D010051 Ovarian Neoplasms Arsenic 15.3417306315
MESH:D010051 Ovarian Neoplasms Estradiol 15.3419401270
MESH:D010051 Ovarian Neoplasms Progesterone 15.3416525653 17393432
MESH:D010051 Ovarian Neoplasms Thalidomide 15.3416288038
MESH:D010051 Ovarian Neoplasms Tretinoin 15.3416936753
MESH:D010146 Pain Tretinoin 2.9916870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5015976015
MESH:D010291 Paresis Thalidomide 6.489200351
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3016093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.146392382 15371236 16905509
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Thalidomide 4.2917031469
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9920887781
MESH:D011471 Prostatic Neoplasms Arsenic 2.1916140617
MESH:D011471 Prostatic Neoplasms Estradiol 2.1916740699
MESH:D011471 Prostatic Neoplasms Flurbiprofen 2.1917409433
MESH:D011471 Prostatic Neoplasms Thalidomide 2.1916729912
MESH:D011507 Proteinuria Arsenic 9.6721343184
MESH:D011507 Proteinuria Tretinoin 9.6716636307
MESH:D011536 Prurigo Thalidomide 6.4812755975
MESH:D011625 Pterygium Tretinoin 4.9516723453
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.2216283617 16116481
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8918045962
MESH:D019873 Schnitzler Syndrome Thalidomide 6.0916096327
MESH:D012871 Skin Diseases Arsenic 2.776392382 17548696 18709164 15952646 16702368 17050553 19834688 17453740 16759981 17938729 16353154
MESH:D012878 Skin Neoplasms Arsenic 6.0719538983 16251483 17976673 17029826 15504454 17050553
MESH:D012878 Skin Neoplasms Tretinoin 6.0716467112
MESH:D013119 Spinal Cord Injuries Progesterone 4.4316503802 15862959
MESH:D013274 Stomach Neoplasms marker/mechanism 19806464
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013276 Stomach Ulcer Thalidomide 4.2815138204
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.3115790496
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1116026305 17045167
MESH:D013978 Tibial Fractures Estradiol 4.8619048282
MESH:D014062 Tongue Neoplasms Tretinoin 3.8916051514
MESH:D014376 Tuberculosis Tretinoin 3.2916040207
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.8515987713 17306315 19429237 19322015 18640142 11144890 17976673
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7816129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.7816752155
MESH:D014652 Vascular Diseases Arsenic 12.7617056641
MESH:D014652 Vascular Diseases Thalidomide 12.7615741222
MESH:D014820 Vitiligo Tretinoin 4.1816761959
MESH:D015430 Weight Gain Dietary Fats 3.8316723640
MESH:D009396 Wilms Tumor Tretinoin 4.0716287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37088
    • No data
    Releated disease ID Related disease Name
    PA445204Ovarian Neoplasms
    Releated drug ID Related drug Name
    PA449014cisplatin
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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